W12* (p.Trp12Ter) variant of PSTPIP1 (O43586)
W12* (p.Trp12Ter) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W12* (p.Trp12Ter) variant details
- p.Trp12Ter
- gnomAD 15-76995608-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 41.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.969
- Literature evidence available